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  2. Sylvia Huisman, MD, PhD

Department of Paediatrics
Academic Medical Centre, University of Amsterdam
Physician for the Mentally Handicapped (AVG)

Prinsenstichting in Purmerend and the Amsterdam Expertise Center for Development Disorders
Amsterdam, Netherlands, 84108

Biosketch:

Dr. Huisman received her specialist training at the Prinsenstichting and at the Erasmus University Medical Center, Rotterdam. Sylvia is a clinical supervisor of the specialist training program at Prinsenstichting and a teacher at the Erasmus University Medical Center, Rotterdam. She did a PhD on Self-injurious Behaviour in Cornelia de Lange syndrome. She works at Prinsenstichting, at the Amsterdam Expertise Center for Neurodevelopmental Disorders at the Amsterdam University Medical Center, and at the Centre for Consultancy and Expertise. She is medical advisor of the Dutch CdLS group and president of the scientific advisory council of the International CdLS Federation.

No conflicts of interest (07/08/2022).

Selected Bibliography:

Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC.
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Nat Rev Genet. 2018. PubMed abstract

Huisman S, Mulder P, Kuijk J, Kerstholt M, van Eeghen A, Leenders A, van Balkom I, Oliver C, Piening S, Hennekam R.
Self-injurious behavior.
Neurosci Biobehav Rev. 2018;84:483-491. PubMed abstract

Mulder PA, Huisman SA, Hennekam RC, Oliver C, van Balkom ID, Piening S.
Behaviour in Cornelia de Lange syndrome: a systematic review.
Dev Med Child Neurol. 2017;59(4):361-366. PubMed abstract / Full Text

Kline AD, Krantz ID, Deardorff MA, Shirahige K, Dorsett D, Gerton JL, Wu M, Mehta D, Mills JA, Carrico CS, Noon S, Herrera PS, Horsfield JA, Bettale C, Morgan J, Huisman SA, Moss J, McCleery J, Grados M, Hansen BD, Srivastava S, Taylor-Snell E, Kerr LM, Katz O, Calof AL, Musio A, Egense A, Haaland RE.
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
Am J Med Genet A. 2017;173(5):1172-1185. PubMed abstract / Full Text

Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, et al.
Phenotypes and genotypes in individuals with SMC1A variants.
Am J Med Genet A. 2017;173(8):2108-2125. PubMed abstract